title: Spinal muscular atrophy: an update.
abstract: Spinal muscular atrophy (SMA) is the most common childhood neurodegenerative disease. We report an infant with SMA type 1 and discuss the recent developments in SMA genetics, pathophysiology, and possible treatment options. Because SMA type 1 remains a fatal illness for which there is not yet a cure, the focus of patient care continues to be symptomatic. Thus, the most appropriate aspects of care at present and future are also discussed.
authors.affiliation: Department of Pediatrics, University of South Florida, Tampa, Florida 33606, USA. tchang@health.usf.edu
authors.forename: Tracy
authors.initials: T
authors.lastname: Chang
authors.forename: Maria
authors.initials: M
authors.lastname: Gieron-Korthals
mesh_terms: D005260:Female; D006801:Humans; D007223:Infant; D009134:Muscular Atrophy, Spinal / Q000453:epidemiology / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D010166:Palliative Care; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics
chemical_list: D055533:Survival of Motor Neuron 1 Protein